Aligning the CMS Muon Chambers with the Muon Alignment System during an Extended Cosmic Ray Run

Peer reviewe

Whole-genome sequencing reveals host factors underlying critical COVID-19

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

Effect of Ginseng Root (Araliaceae sp.) Extracts on Sperm Quality Parameters and Reproductive Performance in Rainbow Trout (Oncorhynchus mykiss)

In this study, ginseng root extract was manufactured and used as a food additive for 8 to 9-month old male rainbow trout (Oncorhynchus mykiss). The extracts were added to the food in two different ratios, 1 g/kg and 2 g/kg. The control group was given a commercial feed with no additive. The fish ate the provided feed for 120 days ad libitum. Sperm samples were taken from fish every 30 days. We observed that the gonadosomatic index (GSI) in the experimental groups was higher than in the control group. Motility duration of groups 1 and 2 was 10 seconds more than the control group. Sperm density averages (SDA) were 7.74±0.61x109, 8.62±0.53 x109 and 11.27±0.78x109, respectively. All sperm samples taken from each experimental group were used for fertilization. Fertilization ratios of control and experimental groups were 65±10%, 84.9±5% and 90±6%, respectively. The hatching ratio was also very high in the extract added groups compared to the control group

A system for endoscopic mechanically scanned localized proton MR and light-induced fluorescence emission spectroscopies

Radiolog

Exome sequencing can improve diagnosis and alter patient management

Item does not contain fulltextThe translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs, advance accuracy, and point to unsuspected yet treatable conditions. To study its capability in the clinic, we performed whole-exome sequencing in 118 probands with a diagnosis of a pediatric-onset neurodevelopmental disease in which most known causes had been excluded. Twenty-two genes not previously identified as disease-causing were identified in this study (19% of cohort), further establishing exome sequencing as a useful tool for gene discovery. New genes identified included EXOC8 in Joubert syndrome and GFM2 in a patient with microcephaly, simplified gyral pattern, and insulin-dependent diabetes. Exome sequencing uncovered 10 probands (8% of cohort) with mutations in genes known to cause a disease different from the initial diagnosis. Upon further medical evaluation, these mutations were found to account for each proband's disease, leading to a change in diagnosis, some of which led to changes in patient management. Our data provide proof of principle that genomic strategies are useful in clarifying diagnosis in a proportion of patients with neurodevelopmental disorders

Supplementary Material for: A Retrospective analysis of 83 patients with testicular mass who underwent testis-sparing surgery: The Eurasian Uro-oncology Association Multicenter Study*

ABSTRACT Introduction: Herein,we analyzed the histopathological, oncologic and functional outcomes of TSS in patient with distinct risk for testicular cancer. Methods: This is a multicenter retrospective study on consecutive patients who underwent TSS. Patients were categorized in high- or low-risk Testicular Germ Cell Tumor(TGCT) according to the presence/absence of features compatible with Testicular Dysgenesis Syndrome(TDS). Histology was categorized per size and risk groups. Results: TSS was performed in 83 patients(86 tumors) of them, 27 in the high-risk group. Fifty-nine patients had a non-tumoral contralateral testis present. Sixty masses and 26 mases were benign and TGCTs respectively. No statistical differences were observed in mean age(30.9±10.32 years), pathological tumor size(14.67 ± 6.7 mm) between risk groups or between benign and malignant tumors(p=0.608). When categorized per risk groups 22(73.3%) and 4(7.1%) of the TSS specimens were malignant in the high- and low-risk patient groups respectively.Univariate analysis showed that the only independent variable significantly related to malignant outcome was previous history of TGCT. During a mean follow-up of 25.5±22.7 months no patient developed systemic disease. Local recurrence was detected in 5 patients and received RO. Postoperative testosterone levels remained normal in 88% of those patients with normal preoperative level. No ED was reported in patients with benign lesions. Conclusion: TSS is a safe and feasible approach with adequate cancer control and preservation of sexual function is possible in 2/3 of patients harboring malignancy. Incidence of TGCT varies extremely between patients at high and low risk for TGCT requiring a careful consideration and counseling